| Study | Design / sample | Core HHRH evidence | Key caveat | Publication |
|---|---|---|---|---|
| Bergwitz et al. (2006) | Linkage, homozygosity mapping, and sequencing; 63 members of a consanguineous Bedouin pedigree, including 10 affected individuals | All 10 affected relatives were homozygous for **SLC34A3 c.228delC**, predicted to truncate NaPi-IIc in its first transmembrane domain; additional biallelic variants were found in three unrelated kindreds. (pqac-00000001, pqac-00000013) | Pedigree-enriched discovery study; it does not estimate population prevalence or penetrance across all variants. | *American Journal of Human Genetics*, 2006; [DOI](https://doi.org/10.1086/499409) |
| Jaureguiberry et al. (2008) | Single-patient genotype–phenotype study with functional expression in opossum-kidney cells and *Xenopus* oocytes | Compound heterozygosity for **p.Thr137Met** and a truncating allele; p.Thr137Met retained approximately **16% overall function**, whereas the truncating allele caused complete loss of expression and function. (pqac-00000008, pqac-00000017) | Heterologous systems and one patient; residual activity may not translate directly to proximal-tubule transport in vivo. | *American Journal of Physiology–Renal Physiology*, 2008; [DOI](https://doi.org/10.1152/ajprenal.00090.2008) |
| Hasani-Ranjbar et al. (2018) | Family case series; 12 relatives plus 10 unrelated controls | A 101-bp **SLC34A3** intronic deletion was present homozygously in **3**, heterozygously in **7**, and absent in **2** relatives. Heterozygotes generally had milder biochemical disease but recurrent stones and hypercalciuria. (pqac-00000009, pqac-00000029) | Small, single-kindred study; related observations are not independent and cannot define population-level frequencies or penetrance. | *Journal of Clinical Research in Pediatric Endocrinology*, 2018; [DOI](https://doi.org/10.4274/jcrpe.0057) |
| Dreimane et al. (2020) | Two affected brothers in one family; oral phosphate, with recombinant growth hormone added in one brother | Both brothers had compound-heterozygous **SLC34A3** deletions. In the brother receiving phosphate plus growth hormone, growth velocity increased from **3.4 to 8.5 cm/year** and tubular phosphate reabsorption from **83.5% to 96.5%**. (pqac-00000022, pqac-00000027, pqac-00000028) | Uncontrolled single-family comparison; puberty, age, adherence, and other differences prevent attribution of benefit solely to growth hormone. | *Therapeutic Advances in Musculoskeletal Disease*, 2020; [DOI](https://doi.org/10.1177/1759720X20912862) |
| Molin et al. (2021) | Sequencing cohort of **185 highly selected** patients with low PTH, hypercalcemia and/or hypercalciuria, plus relatives | **3** participants carried biallelic **SLC34A3** variants; **2** biallelic cases were normophosphatemic, showing that normal serum phosphate does not invariably exclude SLC34A3 disease. (pqac-00000011, pqac-00000023) | Ascertainment was based on vitamin-D-hypersensitivity phenotypes, not suspected HHRH or the general population; prevalence and phenotype proportions are not generalizable. | *Frontiers in Endocrinology*, 2021; [DOI](https://doi.org/10.3389/fendo.2021.736240) |


*Table: Key genetic, functional, family, and treatment evidence for SLC34A3-related HHRH. Study-specific limitations prevent small or selected cohorts from being interpreted as population estimates.*